Canonical Allele Identifier: CA450711005
Community Standard Title: NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)
Gene: LMBRD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.69719079G>A , CM000668.2:g.69719079G>A GRCh38
NC_000006.11:g.70428971G>A , CM000668.1:g.70428971G>A GRCh37
NC_000006.10:g.70485692G>A NCBI36
NG_016012.1:g.83079C>T
NG_016012.2:g.152538C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018368.4:c.639C>T MANE Select NP_060838.3:p.Ala213=
ENST00000649934.3:c.639C>T MANE Select ENSP00000497690.1:p.Ala213=
NM_001363722.1:c.420C>T NP_001350651.1:p.Ala140=
NM_001363722.2:c.420C>T NP_001350651.1:p.Ala140=
NM_001367271.1:c.420C>T NP_001354200.1:p.Ala140=
NM_001367272.1:c.420C>T NP_001354201.1:p.Ala140=
NM_018368.3:c.639C>T NP_060838.3:p.Ala213=
ENST00000370570.5:c.420C>T ENSP00000359602.1:p.Ala140=
ENST00000370570.6:c.420C>T ENSP00000359602.1:p.Ala140=
ENST00000370577.7:c.639C>T ENSP00000359609.3:p.Ala213=
ENST00000472827.1:c.639C>T ENSP00000433385.1:p.Ala213=
ENST00000472827.2:c.639C>T ENSP00000433385.2:p.Ala213=
ENST00000647650.1:c.*136C>T ENSP00000497808.1:n.*136C>T
ENST00000647655.1:n.2242C>T
ENST00000647934.1:n.959C>T
ENST00000647964.1:c.420C>T ENSP00000496784.1:p.Ala140=
ENST00000648168.1:c.420C>T ENSP00000498178.1:p.Ala140=
ENST00000648210.1:n.450C>T
ENST00000648265.1:n.506C>T
ENST00000648303.1:c.*212C>T ENSP00000498133.1:n.*212C>T
ENST00000648394.1:c.420C>T ENSP00000497302.1:p.Ala140=
ENST00000648635.1:c.*404C>T ENSP00000497204.1:n.*404C>T
ENST00000648743.1:c.420C>T ENSP00000497135.1:p.Ala140=
ENST00000649011.1:c.705C>T ENSP00000497575.1:p.Ala235=
ENST00000649028.1:c.420C>T ENSP00000498034.1:p.Ala140=
ENST00000649054.1:c.420C>T ENSP00000496991.1:p.Ala140=
ENST00000649057.1:c.*204C>T ENSP00000497639.1:n.*204C>T
ENST00000649166.1:c.*323C>T ENSP00000496844.1:n.*323C>T
ENST00000649370.1:n.448C>T
ENST00000649673.1:c.639C>T ENSP00000497864.1:p.Ala213=
ENST00000649679.1:c.420C>T ENSP00000497387.1:p.Ala140=
ENST00000649744.1:n.827C>T
ENST00000649795.1:c.*226C>T ENSP00000498147.1:n.*226C>T
ENST00000649918.1:c.420C>T ENSP00000497487.1:p.Ala140=
ENST00000649958.1:c.*149C>T ENSP00000496827.1:n.*149C>T
ENST00000649970.1:c.443C>T
ENST00000650035.1:c.420C>T ENSP00000497703.1:p.Ala140=
ENST00000650043.1:n.618C>T
ENST00000650107.1:c.420C>T ENSP00000497124.1:p.Ala140=
ENST00000650124.1:c.*149C>T ENSP00000497903.1:n.*149C>T
ENST00000650473.1:c.392C>T ENSP00000497045.1:n.392C>T
XM_006715511.2:c.27C>T XP_006715574.1:p.Ala9=
XM_011535941.1:c.420C>T XP_011534243.1:p.Ala140=
XM_024446488.1:c.420C>T XP_024302256.1:p.Ala140=